rs33948057

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in complete genomics

Make rs33948057(A;G)

Make rs33948057(G;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

5226584

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33948057
dbSNP (classic)	rs33948057
ClinGen	rs33948057
ebi	rs33948057
HLI	rs33948057
Exac	rs33948057
Gnomad	rs33948057
Varsome	rs33948057
LitVar	rs33948057
Map	rs33948057
PheGenI	rs33948057
Biobank	rs33948057
1000 genomes	rs33948057
hgdp	rs33948057
ensembl	rs33948057
geneview	rs33948057
scholar	rs33948057
google	rs33948057
pharmgkb	rs33948057
gwascentral	rs33948057
openSNP	rs33948057
23andMe	rs33948057
SNPshot	rs33948057
SNPdbe	rs33948057
MSV3d	rs33948057
GWAS Ctlg	rs33948057

Max Magnitude

0

OMIM	141900
Desc
Variant	0021
Related	also

OMIM	141900
Desc
Variant	0145
Related	also

ClinVar
Risk	rs33948057(C;C) rs33948057(G;G)
Alt	rs33948057(C;C) rs33948057(G;G)
Reference	Rs33948057(A;A)
Significance	Other
Disease	HEMOGLOBIN BETH ISRAEL not specified
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN BETH ISRAEL not specified
Reversed	1
HGVS	NC_000011.9:g.5247814T>C; NC_000011.9:g.5247814T>G
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016266.2, RCV000016434.3,

[PMID 4726294] Kinetic and equilibrium properties of hemoglobin Kansas.

[PMID 5765016] Subunit dissociation of certain abnormal human hemoglobins.

[PMID 6668189] Hemoglobin Kansas in a Japanese family.

[PMID 640846] HB Beth Israel (beta 102 [G4] Asn replaced by Ser) observed in a Yugoslavian teenager.

[PMID 1272328] Hemoglobin Beth Israel. A mutant causing clinically apparent cyanosis.

[PMID 7451490] Conformational studies of hemoglobins using intrinsic fluorescence measurements.